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NEXMIF neurite extension and migration factor [ Homo sapiens (human) ]

Gene ID: 340533, updated on 17-Jun-2019

Summary

Official Symbol
NEXMIFprovided by HGNC
Official Full Name
neurite extension and migration factorprovided by HGNC
Primary source
HGNC:HGNC:29433
See related
Ensembl:ENSG00000050030 MIM:300524
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
XPN; MRX98; KIDLIA; KIAA2022
Summary
An inversion on the X chromosome which disrupts this gene and a G-protein coupled purinergic receptor gene located in the pseudoautosomal region of the X chromosome has been linked to X linked cognitive disability.[provided by RefSeq, Mar 2009]
Expression
Biased expression in brain (RPKM 2.3), adrenal (RPKM 0.6) and 12 other tissues See more
Orthologs

Genomic context

See NEXMIF in Genome Data Viewer
Location:
Xq13.3
Exon count:
4
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (74732856..74925452, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (73952691..74145287, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene poly(A) binding protein cytoplasmic 1 pseudogene 3 Neighboring gene ring finger protein, LIM domain interacting Neighboring gene RNA, U6 small nuclear 330, pseudogene Neighboring gene ATP binding cassette subfamily B member 7 Neighboring gene uracil phosphoribosyltransferase homolog Neighboring gene BUD31 homolog pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Mental retardation, X-linked 98
MedGen: C3806730 OMIM: 300912 GeneReviews: Not available
Compare labs
Non-syndromic X-linked intellectual disability
MedGen: C3501611 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2018-08-22)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2018-08-22)

ClinGen Genome Curation PagePubMed

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
negative regulation of cell adhesion mediated by integrin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of cell-cell adhesion mediated by cadherin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of cell-matrix adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of neuron migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
neurite extension and migration factor
Names
XLMR protein related to neurite extension
XLMR-related protein, neurite extension

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027726.1 RefSeqGene

    Range
    5001..197597
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001008537.3NP_001008537.1  neurite extension and migration factor

    See identical proteins and their annotated locations for NP_001008537.1

    Status: VALIDATED

    Source sequence(s)
    AI167637, AL139395, AY563507, DA776009
    Consensus CDS
    CCDS35337.1
    UniProtKB/Swiss-Prot
    Q5QGS0
    Related
    ENSP00000055682.5, ENST00000055682.12
    Conserved Domains (1) summary
    pfam15735
    Location:284690
    DUF4683; Domain of unknown function (DUF4683)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    74732856..74925452 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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